Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children - 20/08/11
, Darius J. Adams, MD b, Dorothy K. Grange, MD c, John I. Malone, MD d, Elaina Jurecki, MS, RD e, Heather Bausell, RD, LDN f, Kayt D. Marra, CDN b, Laurie Sprietsma, RD, LD c, Kathleen T. Swan, PhD, RD, CDE g
Reprint requests: Dr Barbara K. Burton, MD, Children’s Memorial Hospital 2300 Children's Plaza (707 W. Fullerton Avenue) Chicago, IL 60614-3363.Abstract |
Objective |
To describe patient selection, treatment administration, response evaluation, and side effect management associated with sapropterin therapy in infants and children aged <4 years.
Study design |
Six case reports are presented from 4 US metabolic clinics treating phenylketonuria with sapropterin in patients aged 7 months to 4 years. Outcomes included blood phenylalanine (Phe) levels before and during treatment. For 3 of 6 cases, diet records were used to monitor changes in dietary Phe.
Results |
Severity of phenylketonuria ranged from mild to severe (classic). Treatment with sapropterin was safe and generally well tolerated. Blood Phe levels were reduced, or maximum dietary Phe tolerance was increased in patients with blood Phe that was well controlled by diet.
Conclusions |
Given the increasing evidence that maintaining blood Phe levels below 360 μmol/L is important for the normal development of neurocognitive and behavioral function, sapropterin can be combined with a Phe-restricted diet to control blood Phe levels in young patients responsive to sapropterin therapy.
Le texte complet de cet article est disponible en PDF.Mots-clés : BH4, OFC, PAH, Phe, PKU
Plan
| B.B. has received research support, educational grants, honoraria, and consulting fees from BioMarin Pharmaceutical, the manufacturer of KUVAN (sapropterin dihydrochloride). D.A. D.G., J.M., H.B., K.M., L.S., and K.S. have received honoraria and consulting fees from BioMarin Pharmaceutical. E.J. is a nutrition specialist for BioMarin Pharmaceutical and is a BioMarin shareholder. |
Vol 158 - N° 3
P. 410-415 - mars 2011 Retour au numéro
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